Canonical Allele Identifier: CA2410935291
Community Standard Title: NM_005198.5(CHKB):c.736+2T=
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50580356A= , CM000684.2:g.50580356A= GRCh38
NC_000022.10:g.51018785A= , CM000684.1:g.51018785A= GRCh37
NC_000022.9:g.49365651A= NCBI36
NG_012643.1:g.3312T=
NG_029213.1:g.7644T= , LRG_855:g.7644T=

Transcript Alleles

HGVS Amino-acid Change
NM_005198.5:c.736+2T= (CHKB) MANE Select NP_005189.2:n.736+2T=
ENST00000406938.3:c.736+2T= (CHKB) MANE Select ENSP00000384400.3:n.736+2T=
NM_005198.4:c.736+2T= , LRG_855t1:c.736+2T= (CHKB) NP_005189.2:n.736+2T=
NR_027928.2:n.954+2T= (CHKB-CPT1B)
ENST00000406938.2:c.736+2T= (CHKB) ENSP00000384400.2:n.736+2T=
ENST00000468532.5:n.615T= (CHKB)
ENST00000471515.5:n.98+2T= (CHKB)
ENST00000479003.5:n.1363T= (CHKB)
ENST00000481673.5:n.1186+2T= (CHKB)
ENST00000484266.5:n.731+2T= (CHKB)
ENST00000489453.1:n.277T= (CHKB)
ENST00000492556.5:n.1508T= (CHKB-CPT1B)
ENST00000492582.5:n.1395+2T= (CHKB)